Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

HEART-HAND SYNDROME, SLOVENIAN TYPE
Synonyms
ID

http://purl.bioontology.org/ontology/OMIM/610140
cui

C1857829
Gene Locus

1q21.2
Gene Symbol

HGPS

EMD2

LMNA

LMN1

CMD1A

FPLD2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU068751

http://purl.bioontology.org/ontology/OMIM/MTHU025235

http://purl.bioontology.org/ontology/OMIM/MTHU025240

http://purl.bioontology.org/ontology/OMIM/MTHU003653

http://purl.bioontology.org/ontology/OMIM/MTHU019869

http://purl.bioontology.org/ontology/OMIM/MTHU025237

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU025239

http://purl.bioontology.org/ontology/OMIM/MTHU025236

http://purl.bioontology.org/ontology/OMIM/MTHU025238

http://purl.bioontology.org/ontology/OMIM/MTHU025241
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

610140
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HEART-HAND SYNDROME, SLOVENIAN TYPE
Scope Statement

Caused by mutation in the lamin A/C gene (LMNA, 150330.0045) [MOLECULAR BASIS]
tui

T047
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